The service provided by Khon Kaen University National Phenome Institute (KKUNPhI) are currently for research use only. As they have not been submitted for review to any regulatory agency/notified body for clinical diagnostics, caution must be excercisrd when describing the application of KKUNPhI service in the clinical research field.
This report presents the findings of whole genome sequencing analysis. It provides detailed associations between genetic variants and various diseases and traits, highlighting the mapped genes, relevant SNPs, and associated gene regions.
Gene: Gene is a segment of DNA that serves as a blueprint for producing proteins or functional RNA molecules, which carry out vital biological functions in the body. Genes are the basic units of heredity, passed from parents to offspring, and play a crucial role in determining traits and regulating cellular processes.
Single Nucleotide Polymorphism (SNP): A SNP is a variation in a single nucleotide in the DNA sequence that occurs at a specific position in the genome and is common in a population. SNPs can influence traits, disease susceptibility, and drug response.
Insertion (INS): An insertion is the addition of one or more nucleotides to a DNA sequence.
Deletion (DEL): A deletion is the removal of one or more nucleotides from a DNA sequence.
Complex (COMPLEX): A complex variant is a combination of insertions, deletions, and substitutions
Alleles: An allele is a variant form of a gene found at a specific position (locus) on a chromosome. Each allele is inherited, one from each parent.
Mapped Gene: Genes mapped near or overlapping the SNPs.
Chromosomal region: The genomic region associated with the trait or disease.
Risk Allele Frequency (%): The frequency of the risk allele in the population.
Quantification of 3-aminoisobutyrate in a sample.
Region: 5p13.2
SNPs ID: rs180749
Mapped Gene: AGXT2
Group of disease/trait: Other trait
A measurement quantifying some platelet
Region: 19q13.42
SNPs ID: rs1654447
Mapped Gene: RDH13
Group of disease/trait: Other trait
Quantification of the amount of 2-aminoisobutyric acid in a sample.
Region: 5p13.2
SNPs ID: rs180749
Mapped Gene: AGXT2
Group of disease/trait: Other disease
Description not found
Region: 15q25.1
SNPs ID: rs2568497
Mapped Gene: CRABP1 - IREB2
Group of disease/trait: Other trait
Description not found
Region: 15q25.1
SNPs ID: rs2568497
Mapped Gene: CRABP1 - IREB2
Group of disease/trait: Other trait
A measure of academic performance through educational benchmarks such as national exams and curriculum assessments.
Region: 2p25.1
SNPs ID: rs1861499
Mapped Gene: LINC00299
Group of disease/trait: Other trait
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)
Region: 6p22.3
SNPs ID: rs34969716
Mapped Gene: KDM1B
Group of disease/trait: Other trait
An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.
Region: 1p35.1
SNPs ID: rs16835227
Mapped Gene: RNF19B - AK2
Group of disease/trait: Other trait
An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.
Region: 1p35.1
SNPs ID: rs16835227
Mapped Gene: RNF19B - AK2
Group of disease/trait: Other trait
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)
Region: 6p22.3
SNPs ID: rs34969716
Mapped Gene: KDM1B
Group of disease/trait: Other trait
initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Region: 11p15.1
SNPs ID: rs7122118
Mapped Gene: TPH1
Group of disease/trait: Other trait
A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH). 25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.
Region: 7p15.3
SNPs ID: rs10085881
Mapped Gene: SP4 - DNAH11
Group of disease/trait: Other trait
A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH). 25-hydroxyvitamin D or calcifediol, a prehormone precursor of vitamin D, is widely used as a proxy to quanitfy vitamin D levels in blood.
Region: 7p15.3
SNPs ID: rs10085881
Mapped Gene: SP4 - DNAH11
Group of disease/trait: Other trait
An albumin measurement is a quantification of albumin in blood. serum albumin, the main protein of plasma, has a good binding capacity for water, ca2+, na+, k+, fatty acids, hormones, bilirubin and drugs. its main function is the regulation of the colloidal osmotic pressure of blood. major zinc transporter in plasma, typically binds about 80% of all plasma zinc. low levels of albumin in the blood may indicate liver disease.
Region: 1p35.1
SNPs ID: rs150944423
Mapped Gene: RNF19B - AK2
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 6p21.31
SNPs ID: rs2744973
Mapped Gene: ILRUN
Group of disease/trait: Other trait
Quantification of the ratio of phospholipids to total lipids in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
The number of myeloid leukocytes in a specified volume of blood, usually 1 cubic millimeter.
Region: 6q23.3
SNPs ID: rs610604
Mapped Gene: TNFAIP3
Group of disease/trait: Other trait
The number of immature platelets in a specified volume of blood.
Region: 6p22.2
SNPs ID: rs2281073
Mapped Gene: CARMIL1 - SCGN
Group of disease/trait: Other trait
Quantification of sodium-coupled monocarboxylate transporter 1 in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of the force applied by the hand to pull on or suspend from objects
Region: 17q21.32
SNPs ID: rs2288278
Mapped Gene: HOXB3, HOXB-AS3
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Is a quantification of apolipoprotein A 1 in a sample. It is encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. Apolipoprotein A 1 relates to lower observational risk of coronary artery disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Immune system disease
measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test
Region: 19p13.11
SNPs ID: rs1469024
Mapped Gene: IQCN
Group of disease/trait: Other trait
quantification of the amount of very low density lipoprotein cholesterol in a sample
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of the ratio of free cholesterol to total lipids in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Quantification of the amount of intermediate density lipoprotein in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of the amount of intermediate density lipoprotein in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
quantification of the amount of very low density lipoprotein cholesterol in a sample
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Measurement of remnant cholesterol (remnant lipoprotein), which is an atherogenic lipoprotein composed primarily of very low-density lipoprotein (VLDL) and intermediate-density lipoprotein (IDL).
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Quantification of triglycerides in very large hdl.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.
Region: 5q23.3
SNPs ID: rs7726795
Mapped Gene: FBN2
Group of disease/trait: Other trait
Quantification of the amount of 2,6-dihydroxybenzoic acid in a sample.
Region: 3q29
SNPs ID: rs2342307
Mapped Gene: PCYT1A, SLC51A
Group of disease/trait: Other disease
Ontology not covered
Region: 4q35.2
SNPs ID: rs4253281
Mapped Gene: KLKB1
Group of disease/trait: Other trait
A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. it is primarily a neoplasm of adults. (who 2008)
Region: 3q21.3
SNPs ID: rs9864772
Mapped Gene: LINC01565 - RPN1
Group of disease/trait: Other trait
A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.
Region: 16p11.2
SNPs ID: rs897984
Mapped Gene: MIR4519, BCL7C, MIR762HG
Group of disease/trait: Nervous system disease
Quantification of some aspect of trauma exposure.
Region: 19q13.32
SNPs ID: rs770444611
Mapped Gene: CCDC8 - PNMA8C
Group of disease/trait: Other trait
A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
Region: 2q31.1
SNPs ID: rs4972634
Mapped Gene: LINC01960 - RPSAP24
Group of disease/trait: Nervous system disease
Description of an individual's body size at age 10 compared to average, as reported by the individual.
Region: 8q21.13
SNPs ID: rs35918296
Mapped Gene: HNF4G - RNU2-54P
Group of disease/trait: Other trait
Quantification of neuritic (senile) plaques in the brain, senile plaques (also known as neuritic plaques, senile druse and braindruse) are extracellular deposits of amyloid beta in the grey matter of the brain.[1][2] degenerative neural structures and an abundance of microglia and astrocytes can be associated with senile plaque deposits. these deposits can also be a byproduct of senescence (ageing). however, large numbers of senile plaques and neurofibrillary tangles are characteristic features of alzheimer's disease. abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles.[3] the plaques are variable in shape and size, but are on average 50 µm in size.[4] in alzheimer's disease they are primarily composed of amyloid beta peptides.
Region: 12p13.31
SNPs ID: rs7294478
Mapped Gene: C1RL-AS1
Group of disease/trait: Other trait
Quanitification of argininine levels in a sample.
Region: 4q35.2
SNPs ID: rs4253281
Mapped Gene: KLKB1
Group of disease/trait: Other trait
Quantification of the ratio of free cholesterol to total lipids in a sample.
Region: 8p23.1
SNPs ID: rs11986122
Mapped Gene: MSRA
Group of disease/trait: Cardiovascular disease
Quantification of the ratio of cholesteryl esters to total lipids in a sample.
Region: 8p23.1
SNPs ID: rs11986122
Mapped Gene: MSRA
Group of disease/trait: Other trait
Quantification of the ratio of cholesterol to total lipids in a sample.
Region: 8p23.1
SNPs ID: rs11986122
Mapped Gene: MSRA
Group of disease/trait: Cardiovascular disease
A reduction in the number of circulating thrombocytes.
Region: 12q24.33
SNPs ID: rs905227
Mapped Gene: ZNF84
Group of disease/trait: Other trait
Recording of the moment-to-moment electromotive forces of theâ heartâ as projected onto various sites on the body's surface, delineated as a scalar function of time. the recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is aâ cathode ray tube display.
Region: 11q22.1
SNPs ID: rs671333
Mapped Gene: ARHGAP42
Group of disease/trait: Other trait
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Region: 4q28.3
SNPs ID: rs7439567
Mapped Gene: PCDH18 - LINC02172
Group of disease/trait: Cardiovascular disease
The MCH is the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count
Region: 17q11.2
SNPs ID: rs10853129
Mapped Gene: MIR4732 - FLOT2
Group of disease/trait: Other trait
Red blood cell distribution width (rdw or rdw-cv or rcdw and rdw-sd) is a measure of the range of variation of red blood cell (rbc) volume that is reported as part of a standard complete blood count. usually red blood cells are a standard size of about 6-8 μm in diameter. certain disorders, however, cause a significant variation in cell size. higher rdw values indicate greater variation in size. normal reference range of rdw-cv in human red blood cells is 11.5-14.5%.[1] if anemia is observed, rdw test results are often used together with mean corpuscular volume (mcv) results to determine the possible causes of the anemia. it is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause.
Region: 13q12.2
SNPs ID: rs17085633
Mapped Gene: MTIF3
Group of disease/trait: Other trait
Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)
Region: 6q16.1
SNPs ID: rs12208753
Mapped Gene: MMS22L - MIR2113
Group of disease/trait: Other trait
Quantification of some aspect of an individual's micrbiome of the gut
Region: 17q12
SNPs ID: rs317386
Mapped Gene: ASIC2
Group of disease/trait: Digestive system disease
Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics)
Region: 6q16.1
SNPs ID: rs12208753
Mapped Gene: MMS22L - MIR2113
Group of disease/trait: Other trait
Acute myeloid leukemia (aml) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. all of them are characterized by clonal expansion of myeloid blasts. aml manifests by fever, pallor, anemia, hemorrhages and recurrent infections.
Region: 14q31.1
SNPs ID: rs1952373; rs8006900; rs7152583; rs8007728; rs2031857; rs17650363; rs8004086
Mapped Gene: EEF1A1P2 - LINC02311; EEF1A1P2 - LINC02311; EEF1A1P2 - LINC02311; EEF1A1P2 - LINC02311; EEF1A1P2 - LINC02311; EEF1A1P2 - LINC02311; EEF1A1P2 - LINC02311
Group of disease/trait: Cancer
Abnormally low levels of thyroid hormone.
Region: 14q13.2
SNPs ID: rs1742869
Mapped Gene: LINC00609
Group of disease/trait: Metabolic disease
Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
Region: 10p11.23
SNPs ID: rs793095
Mapped Gene: LINC02664
Group of disease/trait: Other trait
A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Region: 13q14.11
SNPs ID: rs6563812
Mapped Gene: LINC00598
Group of disease/trait: Other trait
Ontology not covered
Region: 4q35.2
SNPs ID: rs4253281
Mapped Gene: KLKB1
Group of disease/trait: Other trait
The quantification of some metabolite.
Region: 16p11.2
SNPs ID: rs193628
Mapped Gene: SGF29
Group of disease/trait: Other disease
is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.Testosterone measurement is used in the diagnosis of precocious or delayed puberty, infertility (in men and women), ovarian tumours, adrenal tumours and pituitary disorders.
Region: 3p25.3
SNPs ID: rs573833
Mapped Gene: ATP2B2
Group of disease/trait: Other trait
The quantification of some metabolite.
Region: 16p11.2
SNPs ID: rs193628
Mapped Gene: SGF29
Group of disease/trait: Other disease
The quantification of some metabolite.
Region: 16p11.2
SNPs ID: rs193628
Mapped Gene: SGF29
Group of disease/trait: Other disease
Quantification of the amount of prolylglycine in a sample.
Region: 16q24.3
SNPs ID: rs2434858
Mapped Gene: DPEP1
Group of disease/trait: Other disease
Quantification of the levels of some protein in a blood sample
Region: 11q13.4
SNPs ID: rs6592590
Mapped Gene: POLD3 - RN7SKP297
Group of disease/trait: Other trait
Red blood cell distribution width (rdw or rdw-cv or rcdw and rdw-sd) is a measure of the range of variation of red blood cell (rbc) volume that is reported as part of a standard complete blood count. usually red blood cells are a standard size of about 6-8 μm in diameter. certain disorders, however, cause a significant variation in cell size. higher rdw values indicate greater variation in size. normal reference range of rdw-cv in human red blood cells is 11.5-14.5%.[1] if anemia is observed, rdw test results are often used together with mean corpuscular volume (mcv) results to determine the possible causes of the anemia. it is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause.
Region: 6p22.3
SNPs ID: rs4441945
Mapped Gene: RPL21P61 - LNC-LBCS
Group of disease/trait: Other trait
Red blood cell distribution width (rdw or rdw-cv or rcdw and rdw-sd) is a measure of the range of variation of red blood cell (rbc) volume that is reported as part of a standard complete blood count. usually red blood cells are a standard size of about 6-8 μm in diameter. certain disorders, however, cause a significant variation in cell size. higher rdw values indicate greater variation in size. normal reference range of rdw-cv in human red blood cells is 11.5-14.5%.[1] if anemia is observed, rdw test results are often used together with mean corpuscular volume (mcv) results to determine the possible causes of the anemia. it is mainly used to differentiate an anemia of mixed causes from an anemia of a single cause.
Region: 6p22.3
SNPs ID: rs4441945
Mapped Gene: RPL21P61 - LNC-LBCS
Group of disease/trait: Other trait
A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample.
Region: 11q24.3
SNPs ID: rs2250322
Mapped Gene: FLI1
Group of disease/trait: Other trait
A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample.
Region: 11q24.3
SNPs ID: rs2250322
Mapped Gene: FLI1
Group of disease/trait: Other trait
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 6p21.31
SNPs ID: rs4711396
Mapped Gene: ILRUN
Group of disease/trait: Cardiovascular disease
The measurement of HDL cholesterol in blood used as a risk indicator for heart disease.
Region: 6p21.31
SNPs ID: rs4711396
Mapped Gene: ILRUN
Group of disease/trait: Cardiovascular disease
Quantification of the amount of esterified cholesterol in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture.
Region: 3q21.3
SNPs ID: rs4073154
Mapped Gene: H1-10-AS1
Group of disease/trait: Other trait
An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.
Region: 5q31.3
SNPs ID: rs740474
Mapped Gene: DIAPH1
Group of disease/trait: Immune system disease
The blood pressure during the contraction of the left ventricle of the heart.
Region: 4q28.3
SNPs ID: rs7439567
Mapped Gene: PCDH18 - LINC02172
Group of disease/trait: Cardiovascular disease
Ontology not covered
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Ontology not covered
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Ontology not covered
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Ontology not covered
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. an eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes.
Region: 8p21.2
SNPs ID: rs4733063
Mapped Gene: PTK2B
Group of disease/trait: Other trait
A quantification of glycated A1c hemoglobin in blood used as an index for blood glucose level over several months.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
The determination of the amount of matrix metalloproteinase-9 in a sample
Region: 17q21.1
SNPs ID: rs3826331
Mapped Gene: PSMD3
Group of disease/trait: Other trait
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Region: 6p22.3
SNPs ID: rs493024
Mapped Gene: ID4 - RPL29P17
Group of disease/trait: Other trait
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Region: 6p22.3
SNPs ID: rs493024
Mapped Gene: ID4 - RPL29P17
Group of disease/trait: Other trait
An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.
Region: 2q24.1
SNPs ID: rs8179646
Mapped Gene: LINC01958 - RPLP0P7
Group of disease/trait: Digestive system disease
An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
Region: 17p13.1
SNPs ID: rs739669
Mapped Gene: DLG4, ACADVL
Group of disease/trait: Other trait
The length of time of an organism's life.
Region: 14q23.3
SNPs ID: rs1950902
Mapped Gene: MTHFD1
Group of disease/trait: Other trait
The determination of the amount of myeloblastin in a sample
Region: 19p13.3
SNPs ID: rs3786991
Mapped Gene: AZU1 - PRTN3
Group of disease/trait: Other trait
Quantification of the ratio of triglyceride to hdl cholesterol in a sample
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Cardiovascular disease
Quantification of the invasion of fibrous connective tissue into the liver, typically by histological assessment of biopsy samples.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Immune system disease
Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. ap is a marker for bone and liver disease.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of phospholipids in large hdl.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
Quantification of n-linked igg glycans in a serum sample
Region: 6p21.32
SNPs ID: rs1049110
Mapped Gene: HLA-DQB2
Group of disease/trait: Immune system disease
Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
Region: 1p13.3
SNPs ID: rs3754446
Mapped Gene: GSTM2 - GSTM5
Group of disease/trait: Other trait
Quantification of the amount of 1-oleoyl-2-arachidonoyl-gpe (18:1/20:4) in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle
Region: 10p12.2
SNPs ID: rs7098978
Mapped Gene: RNU6-413P - ARMC3
Group of disease/trait: Other trait
Quantification of stearoyl-arachidonoyl-glycerophosphoinositol (1) in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.
Region: 6q23.3
SNPs ID: rs610604
Mapped Gene: TNFAIP3
Group of disease/trait: Immune system disease
Plaque psoriasis is the most common presentation of psoriasis. it presents as small to large, well demarcated, red, scaly and thickened areas of skin. it most likely to affect elbows, knees, and lower back but may arise on any part of the body.
Region: 6q23.3
SNPs ID: rs610604
Mapped Gene: TNFAIP3
Group of disease/trait: Immune system disease
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dietary polyunsaturated fatty acid supplement.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A type of inflammatory arthritis associated with psoriasis, often involving the axial joints and the peripheral terminal interphalangeal joints. it is characterized by the presence of hla-b27-associated spondylarthropathy, and the absence of rheumatoid factor.
Region: 6q23.3
SNPs ID: rs610604
Mapped Gene: TNFAIP3
Group of disease/trait: Other trait
The determination of the amount of fatty acids present in a sample.
Region: 11q12.2
SNPs ID: rs174566
Mapped Gene: FADS1, FADS2
Group of disease/trait: Other trait
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent p waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (cdisc)
Region: 6p22.3
SNPs ID: rs34969716
Mapped Gene: KDM1B
Group of disease/trait: Other trait
Measurement of the repolarisation phase of the heart's electrical cycle, defined as the difference between the duration of the qt interval and duration of the qrs interval
Region: 6p22.3
SNPs ID: rs34969716
Mapped Gene: KDM1B
Group of disease/trait: Other trait
Quantification of the levels of some protein in a blood sample
Region: 1p13.3
SNPs ID: rs10127790
Mapped Gene: SORT1
Group of disease/trait: Other trait
Quantification of the amount of ectonucleoside triphosphate diphosphohydrolase 5 in a sample
Region: 14q24.3
SNPs ID: rs1968105
Mapped Gene: PTGR2
Group of disease/trait: Other trait
Ontology not covered
Region: 18q21.32
SNPs ID: rs11665052
Mapped Gene: RNU4-17P - MC4R
Group of disease/trait: Other trait
The determination of the amount of icos ligand in a sample
Region: 8p23.1
SNPs ID: rs56136595
Mapped Gene: DEFA4 - DEFA8P
Group of disease/trait: Other trait
A creatinine measurement is a measure of the metabolite creatinine in a sample. For example, in the serum, where it can be used in assessment of kidney function.
Region: 17q12
SNPs ID: rs113414512
Mapped Gene: FBXL20
Group of disease/trait: Other trait
Quantification of the surface area of the cerebral cortex or parts thereof.
Region: 12q23.3
SNPs ID: rs2374977
Mapped Gene: WSCD2
Group of disease/trait: Other trait
Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.
Region: 19p13.3
SNPs ID: rs3786991
Mapped Gene: AZU1 - PRTN3
Group of disease/trait: Other trait
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
Region: 3q21.3
SNPs ID: rs4073154
Mapped Gene: H1-10-AS1
Group of disease/trait: Other trait
The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
Region: 3q21.3
SNPs ID: rs4073154
Mapped Gene: H1-10-AS1
Group of disease/trait: Other trait
self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker
Region: 2q36.3
SNPs ID: rs4674993
Mapped Gene: NYAP2
Group of disease/trait: Other trait
self-reported binary measure, used to denote whether an individual is currently or has ever been a smoker
Region: 2q36.3
SNPs ID: rs4674993
Mapped Gene: NYAP2
Group of disease/trait: Other trait
Quantification of some aspect of facial emotion recognition such as ability to differentiate between different emotions
Region: 12p11.22
SNPs ID: rs4930838
Mapped Gene: CCDC91 - FAR2
Group of disease/trait: Other trait
Tests designed to assess neurological function associated with certain behaviors. they are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
Region: 13q31.2
SNPs ID: rs969962
Mapped Gene: TET1P1 - LINC00373
Group of disease/trait: Nervous system disease
A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.
Region: 14q24.3
SNPs ID: rs7149373
Mapped Gene: NRXN3
Group of disease/trait: Mental disorder
The number of platelets per unit volume in a sample of venous blood.
Region: 11q24.3
SNPs ID: rs2268607
Mapped Gene: FLI1
Group of disease/trait: Other trait
The proportion of blood volume that is occupied by platelets, expressed as a percentage.
Region: 11q24.3
SNPs ID: rs2268607
Mapped Gene: FLI1
Group of disease/trait: Other trait
the quantification of the number of cigarettes that a subject smoked on average per day
Region: 1q21.3
SNPs ID: rs2072659
Mapped Gene: CHRNB2
Group of disease/trait: Other trait
the quantification of the number of cigarettes that a subject smoked on average per day
Region: 1q21.3
SNPs ID: rs2072659
Mapped Gene: CHRNB2
Group of disease/trait: Other trait
the quantification of the number of cigarettes that a subject smoked on average per day
Region: 1q21.3
SNPs ID: rs2072659
Mapped Gene: CHRNB2
Group of disease/trait: Other trait
The blood pressure after the contraction of the heart while the chambers of the heart refill with blood.
Region: 2q35
SNPs ID: rs16859180
Mapped Gene: STK36
Group of disease/trait: Cardiovascular disease